Details of Disease | DrugMAP

General Information of Disease (ID: DIS0AMX8)

Disease Name	Meier-Gorlin syndrome 1
Synonyms	Meier-GORLIN syndrome 1; Meier-Gorlin syndrome; Ear, patella, short stature syndrome; MGORS1; microtia, absent patellae, micrognathia syndrome; Meier-Gorlin syndrome type 1; Meier-Gorlin syndrome 1; ORC1 Meier-Gorlin syndrome; Meier-Gorlin syndrome caused by mutation in ORC1
Definition	Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene.
Disease Hierarchy	DISCFIU3: Meier-Gorlin syndrome DIS0AMX8: Meier-Gorlin syndrome 1
Disease Identifiers	MONDO ID MONDO_0009143 UMLS CUI C4552001 OMIM ID 224690 MedGen ID 1641240

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ORC1	OTHWU8IJ	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet. 2011 Feb 27;43(4):350-5. doi: 10.1038/ng.776.